TY - JOUR T1 - Tumor Necrosis Factor-α -308 Genotypes Influence Inflammatory Activity and TNF-α Serum Concentrations in Children with Juvenile Idiopathic Arthritis JF - The Journal of Rheumatology JO - J Rheumatol DO - 10.3899/jrheum.080615 SP - jrheum.080615 AU - Ana Filipa Mourão AU - Joana Caetano-Lopes AU - Paula Costa AU - Helena Canhão AU - Maria José Santos AU - Patrícia Pinto AU - Iva Brito AU - Paulo Nicola AU - João Cavaleiro AU - José Teles AU - Artur Sousa José AU - Melo Gomes AU - Jaime Branco AU - José Teixeira da Costa AU - João Gomes Pedro AU - Mário Viana de Queiroz AU - João Eurico Fonseca Y1 - 2009/01/15 UR - http://www.jrheum.org/content/early/2009/01/22/jrheum.080615.abstract N2 - Objective Considering the relevance of tumor necrosis factor-α (TNF-α) in the pathophysiology of juvenile idiopathic arthritis (JIA), it is likely that polymorphisms in its promoter area may be relevant in disease susceptibility and activity. We investigated if clinical measures of JIA activity and TNF-α serum concentrations were associated with TNF-α –308 genotypes. Methods Portuguese patients with JIA in 5 pediatric rheumatology centers were recruited consecutively, along with a control group of healthy subjects. Demographic and clinical data and blood samples were collected from each patient. DNA was extracted for analysis of TNF-α gene promoter polymorphisms at position –308 by restriction fragment-length polymorphism. Results One hundred fourteen patients and 117 controls were evaluated; 57% of patients presented the oligoarticular subtype, 25% the polyarticular subtype, 8% the systemic subtype, and 9% had enthesitis-related arthritis and 5% psoriatic arthritis. Twenty-four percent of the patients presented the –308 GA/AA genotypes and 76% the –308 GG genotype, similar to findings in controls. Patients with the –308 GA/AA genotype had higher degree of functional impairment, erythrocyte sedimentation rate, 100-mm visual analog scale score for disease activity, and TNF-α levels compared to those with the –308 GG genotype. Conclusion TNF-α –308 GA/AA genotypes were found to be related to higher inflammatory activity and worse measures of disease activity in Portuguese patients with JIA. They were not associated with susceptibility to JIA. ER -